ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.149G>C (p.Trp50Ser)

dbSNP: rs1554938211
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000628554 SCV000749456 uncertain significance Beckwith-Wiedemann syndrome 2018-01-21 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with CDKN1C-related disease. This sequence change replaces tryptophan with serine at codon 61 of the CDKN1C protein (p.Trp61Ser). The tryptophan residue is highly conserved and there is a large physicochemical difference between tryptophan and serine.

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